Linked Data
ClinVar Variation Id:
298140
dbSNP Id:
rs145762716
ExAC:
1:92737184 G / C
gnomAD v2:
1-92737184-G-C
gnomAD v3:
1-92271627-G-C
gnomAD v4:
1-92271627-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92271627G>C , CM000663.2:g.92271627G>C | GRCh38 |
| NC_000001.10:g.92737184G>C , CM000663.1:g.92737184G>C | GRCh37 |
| NC_000001.9:g.92509772G>C | NCBI36 |
| NG_009796.1:g.32383C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.761C>G MANE Select | ENSP00000359385.3:p.Pro254Arg | |
| ENST00000370360.7:c.761C>G | ENSP00000359385.3:p.Pro254Arg | |
| ENST00000463560.1:c.129C>G | ||
| ENST00000495106.5:c.761C>G | ENSP00000436829.1:p.Pro254Arg | |
| ENST00000495852.6:c.26C>G | ENSP00000469157.2:p.Pro9Arg | |
| NM_053274.2:c.761C>G | NP_444504.1:p.Pro254Arg | |
| XM_005270400.1:c.761C>G | XP_005270457.1:p.Pro254Arg | |
| XM_005270401.2:c.635C>G | XP_005270458.1:p.Pro212Arg | |
| XM_006710309.1:c.260C>G | XP_006710372.1:p.Pro87Arg | |
| XM_011540544.1:c.761C>G | XP_011538846.1:p.Pro254Arg | |
| XM_011540545.1:c.761C>G | XP_011538847.1:p.Pro254Arg | |
| XM_011540546.1:c.761C>G | XP_011538848.1:p.Pro254Arg | |
| XR_946529.1:n.876C>G | ||
| NM_001319683.1:c.761C>G | NP_001306612.1:p.Pro254Arg | |
| NR_135089.1:n.876C>G | ||
| XM_005270401.3:c.635C>G | XP_005270458.1:p.Pro212Arg | |
| XM_006710309.2:c.260C>G | XP_006710372.1:p.Pro87Arg | |
| XM_011540546.2:c.761C>G | XP_011538848.1:p.Pro254Arg | |
| XM_017000137.1:c.860C>G | XP_016855626.1:p.Pro287Arg | |
| XM_017000138.1:c.860C>G | XP_016855627.1:p.Pro287Arg | |
| XM_017000139.1:c.860C>G | XP_016855628.1:p.Pro287Arg | |
| XM_017000140.1:c.734C>G | XP_016855629.1:p.Pro245Arg | |
| XM_017000141.1:c.761C>G | XP_016855630.1:p.Pro254Arg | |
| XM_017000142.1:c.260C>G | XP_016855631.1:p.Pro87Arg | |
| XM_017000143.1:c.260C>G | XP_016855632.1:p.Pro87Arg | |
| XM_017000144.1:c.-11C>G | XP_016855633.1:n.-11C>G | |
| XR_002959248.1:n.1244C>G | ||
| XR_002959249.1:n.876C>G | ||
| NM_053274.3:c.761C>G MANE Select | NP_444504.1:p.Pro254Arg | |
| NM_001319683.2:c.761C>G | NP_001306612.1:p.Pro254Arg | |
| NR_135089.2:n.854C>G |